Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_014366.5
p.V367M
c.1099G>A
NM_014366.5
p.R39Q
c.116G>A
NM_014366.5
p.G261V
c.782G>T
NM_014366.5
p.V355I
c.1063G>A
NM_014366.5
p.S451T
c.1352G>C
NM_014366.5
p.L86_K88delFs
c.258_262del5
NM_014366.5
p.T512_G513delFs
c.1536_1537delAG
NM_014366.5
p.M1I
c.3G>A
NM_014366.5
p.M1I
c.3G>C
NM_014366.5
p.M1I
c.3G>T
NM_014366.5
p.R18Q
c.53G>A
NM_014366.5
p.R26Q
c.77G>A